OBJECTIVES: Friedreich Ataxia (FA) is a progressive and systemic neuromuscular disease characterized by worsening ataxia, scoliosis, and loss of ambulation (LOA). Cardiomyopathy and diabetes are common and serious comorbidities of FA. This study aimed to characterize and quantify the clinical burden of FA, compared to a non-FA cohort, using a retrospective United States (US) claims analysis.

METHODS: The US Merative MarketScan Commercial database subset from Aug 2010 to Sept 2020 was utilized. Patients (children and adults) with ≥1 inpatient, or ≥2 outpatient visits separated by ≥30 days, with primary or secondary diagnosis of FA (ICD-9 334.0) prior to Oct 2015 were identified, as 334.0 was replaced by a non-specific ICD-10 code in September 2015. Included patients had ≥12 months of follow-up. Patient demographics and clinical characteristics were summarized and compared to a 5:1 age-, sex-, and index-year-matched comparison non-FA cohort. Results were stratified by age at index.

RESULTS: 447 patients with FA (mean[SD] age of 34.9[17.5] years at index) and 2,309 non-FA comparison patients (35.8[17.5]) years) met study criteria. Over 1-year of follow-up, FA patients had significantly higher comorbidity burden, with a mean(SD) weighted Elixhauser score of 10.4(7.3) compared to 0.3(2.7) among the non-FA patients (p<0.001). A substantial proportion of the FA cohort experienced LOA (41%) cardiomyopathy (30%), and scoliosis (21%). The odds of experiencing clinical manifestations were significantly higher among the FA patients vs. non-FA and ranged from 3.8 times higher for diabetes (OR=3.8; 95%CI 2.8-5.3) to 113 (OR=112.6; 95%CI 67-206) for LOA. When stratified by age at index, FA patients consistently had significantly higher observed frequencies of these outcomes (p<0.001).

CONCLUSIONS: Patients with FA in comparison to non-FA, experience significant clinical manifestations and comorbidities. This study provides real-world estimates of this disease burden, for commercially insured patients with FA in the US, underlying the unmet medical need in this population.